Term Name: | congenital muscular dystrophy due to integrin alpha-7 deficiency |
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Synonyms: | congenital muscular dystrophy with integrin alpha-7 deficiency, congenital muscular dystrophy with ITGA7 deficiency, congenital myopathy due to integrin alpha-7 deficiency |
Definition: | A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. |
Ontology: | Human Disease [DOID:0110639] ( DOID:0110639 ) |